ID:PVRL1_HUMAN DESCRIPTION: RecName: Full=Poliovirus receptor-related protein 1; AltName: Full=Herpes virus entry mediator C; Short=Herpesvirus entry mediator C; Short=HveC; AltName: Full=Herpesvirus Ig-like receptor; Short=HIgR; AltName: Full=Nectin-1; AltName: CD_antigen=CD111; Flags: Precursor; FUNCTION: Promotes cell-cell contacts by forming homophilic or heterophilic trans-dimers. Heterophilic interactions have been detected between PVRL1/nectin-1 and PVRL3/nectin-3 and between PVRL1/nectin-1 and PVRL4/nectin-4. SUBUNIT: Can form trans-heterodimers with PVRL3/nectin-3 and with PVRL4/nectin-4. Interacts (via C-terminus) with afadin (via PDZ domain); this interaction recruits PVRL1 to cadherin-based adherens junctions. Interacts with integrin alphaV/beta3. Interacts with herpes simplex virus 1 (HHV-1), herpes simplex virus 2 (HHV-2), and pseudorabies virus (PRV) envelope glycoprotein D; functions as an entry receptor for these viruses. INTERACTION: Q9NQS3:PVRL3; NbExp=2; IntAct=EBI-1771314, EBI-2826725; Q96NY8:PVRL4; NbExp=2; IntAct=EBI-1771314, EBI-4314784; SUBCELLULAR LOCATION: Isoform Alpha: Cell membrane; Single-pass type I membrane protein. SUBCELLULAR LOCATION: Isoform Delta: Cell membrane; Single-pass type I membrane protein. SUBCELLULAR LOCATION: Isoform Gamma: Secreted. DISEASE: Defects in PVRL1 are the cause of ectodermal dysplasia Margarita Island type (EDMI) [MIM:225060]; also known as Zlotogora-Ogur syndrome, cleft lip/palate-ectodermal dysplasia syndrome (CLPED1) or ectodermal dysplasia 4. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDMI is an autosomal recessive syndrome characterized by the association of cleft lip/palate, ectodermal dysplasia (sparse short and dry scalp hair, sparse eyebrows and eyelashes), and partial syndactyly of the fingers and/or toes. Two thirds of the patients do not manifest oral cleft but present with abnormal teeth and nails. DISEASE: Defects in PVRL1 are the cause of non-syndromic orofacial cleft type 7 (OFC7) [MIM:225060]. Non-syndromic orofacial cleft is a common birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two- third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. SIMILARITY: Belongs to the nectin family. SIMILARITY: Contains 2 Ig-like C2-type (immunoglobulin-like) domains. SIMILARITY: Contains 1 Ig-like V-type (immunoglobulin-like) domain. SEQUENCE CAUTION: Sequence=CAA53980.2; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q15223
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.